由MYH7基因突变引起的伴有心肌病的症状性远端肌病。
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.
作者信息
Overeem S, Schelhaas H J, Blijham P J, Grootscholten M I, ter Laak H J, Timmermans J, van den Wijngaard A, Zwarts M J
机构信息
Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
出版信息
Neuromuscul Disord. 2007 Jun;17(6):490-3. doi: 10.1016/j.nmd.2007.02.007. Epub 2007 Mar 23.
Mutations in the myosin heavy chain gene (MYH7) can cause several distinct phenotypes depending on the location of the mutation: hypertrophic cardiomyopathy (several exons), myosin storage myopathy (exon 37/39) or Laing distal myopathy (exons 32-36). Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16).
肌球蛋白重链基因（MYH7）中的突变可根据突变位置导致几种不同的表型：肥厚型心肌病（多个外显子）、肌球蛋白贮积性肌病（外显子37/39）或莱因远端肌病（外显子32 - 36）。在此，我们描述了一个具有MYH7 Val606Met突变（外显子16）的家族中肥厚型心肌病和肥厚型远端肌病的独特组合。
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